Evidence map›Paper›PMID 38405922›Full record

ArticleResearch square2024

Coding and non-coding variants in the ciliopathy gene

Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi and 7 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 7 institutions in 3 countries.

Riccardo SangermanoOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Priya GuptaOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Cherrell PriceOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Jinu HanInstitute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Julien NavarroSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Christel CondroyerSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Emily M PlaceOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Aline AntonioSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Shizuo MukaiRetina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Xavier ZanlonghiCentre de compétence maladies rares, Service d'Ophtalmologie, CHU Rennes, Rennes, France.
José-Alain SahelSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Jacque L DuncanDepartment of Ophthalmology, University of California, San Francisco, California, USA.
Eric A PierceOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Christina ZeitzSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Isabelle AudoSorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Rachel M HuckfeldtOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9220-2261
Kinga M BujakowskaOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-6809-9818
Massachusetts Eye and Ear Infirmary · USCentre National de la Recherche Scientifique · FRInstitut de la Vision · FRCentre Hospitalier Universitaire de Rennes · FRUniversity of California, San Francisco · USUniversity of Pittsburgh Medical Center · USYonsei University · KR

Funding

Precision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
Genetic Causes and Genetic Modifiers of Inherited Retinal DegenerationsR01EY026904 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI BUJAKOWSKA, KINGA, PIERCE, ERIC A · 2017 to 2021
$3.0M
NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY012910NEI NIH HHS R01 EY026904
6 · The paper itself

Abstract

Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. The implementation of next-generation sequencing in routine diagnostics, together with advanced clinical phenotyping including multimodal retinal imaging, have contributed to the increase of reports describing novel genotype-phenotype associations and phenotypic expansions. In this study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in

Identifiers

PMID38405922
PMCPMC10889070
OpenAlexW4391693918

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.